Variant report

Variant	rs9933843
Chromosome Location	chr16:30903679-30903680
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr16:30903164-30904683	K562	blood:	n/a	n/a

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:30902291..30910124-chr16:30929571..30937617,16	K562	blood:
2	chr16:30708652..30711335-chr16:30903340..30907064,3	K562	blood:
3	chr16:30902664..30909579-chr16:30931454..30940613,20	MCF-7	breast:
4	chr16:30883282..30888471-chr16:30902396..30910299,26	MCF-7	breast:
5	chr16:30903642..30909138-chr16:30932304..30936727,12	MCF-7	breast:
6	chr16:30883819..30890392-chr16:30902420..30910068,31	K562	blood:
7	chr16:30787489..30791955-chr16:30902887..30909666,10	K562	blood:
8	chr16:30708652..30711178-chr16:30903340..30907064,5	K562	blood:
9	chr16:30786009..30790115-chr16:30903648..30907620,6	MCF-7	breast:
10	chr16:30884464..30890146-chr16:30902796..30909297,24	K562	blood:

No data

Variant related genes	Relation type
MIR762	TF binding region
CTF1	TF binding region
ENSG00000080603	Chromatin interaction
ENSG00000260852	Chromatin interaction
ENSG00000260083	Chromatin interaction
ENSG00000261840	Chromatin interaction
ENSG00000262026	Chromatin interaction
ENSG00000265991	Chromatin interaction
ENSG00000099364	Chromatin interaction

Extended variants
information (count: 117 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:99)

rs_ID	r²[population]
rs1046276	0.91[CEU][hapmap];1.00[CHD][hapmap];0.88[JPT][hapmap]
rs10782001	0.91[CEU][hapmap]
rs10782002	0.91[CEU][hapmap];1.00[CHD][hapmap]
rs10871454	0.88[JPT][hapmap]
rs11076	0.81[CEU][hapmap]
rs11150596	0.91[CEU][hapmap];1.00[CHB][hapmap];0.84[GIH][hapmap];0.86[JPT][hapmap];0.89[MEX][hapmap]
rs11150599	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.95[TSI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11150600	0.91[CEU][hapmap];1.00[CHD][hapmap]
rs11150601	1.00[CHD][hapmap]
rs11150604	0.88[JPT][hapmap]
rs11640534	0.91[CEU][hapmap];1.00[CHD][hapmap]
rs11640961	1.00[CHD][hapmap]
rs11647697	0.84[ASN][1000 genomes]
rs11649653	1.00[CHD][hapmap];0.88[JPT][hapmap]
rs11862744	0.88[JPT][hapmap]
rs11862962	0.97[ASN][1000 genomes]
rs11864054	0.82[CHB][hapmap]
rs11864839	1.00[JPT][hapmap]
rs11865038	0.88[JPT][hapmap]
rs12445650	0.86[JPT][hapmap]
rs12920259	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12924903	0.91[CEU][hapmap];1.00[CHD][hapmap];0.88[JPT][hapmap]
rs12926237	0.82[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap]
rs12926295	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];0.90[TSI][hapmap];0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12928081	0.89[ASN][1000 genomes]
rs12928852	0.91[CEU][hapmap];1.00[CHD][hapmap]
rs12929065	0.84[ASN][1000 genomes]
rs12930545	0.87[CEU][hapmap];0.92[CHD][hapmap]
rs12930944	0.84[ASN][1000 genomes]
rs12931046	1.00[CHD][hapmap]
rs1458201	0.91[CHD][hapmap]
rs1458202	0.91[CEU][hapmap];1.00[CHD][hapmap]
rs1870293	1.00[CHD][hapmap]
rs2054213	1.00[CHD][hapmap]
rs2125293	0.84[ASN][1000 genomes]
rs2168834	0.84[ASN][1000 genomes]
rs2303222	0.88[JPT][hapmap]
rs2303223	0.88[JPT][hapmap]
rs2305880	1.00[CHD][hapmap]
rs2305884	1.00[CHD][hapmap]
rs2335013	0.84[ASN][1000 genomes]
rs2878304	0.92[ASN][1000 genomes]
rs35468353	0.88[JPT][hapmap]
rs35675346	0.91[CHD][hapmap];0.88[JPT][hapmap]
rs3751855	0.88[JPT][hapmap]
rs3813020	0.86[CEU][hapmap];1.00[CHD][hapmap]
rs4290486	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4468641	0.88[JPT][hapmap]
rs4889490	0.82[CHB][hapmap]
rs4889525	1.00[CHD][hapmap]
rs4889534	0.84[ASN][1000 genomes]
rs4889536	0.84[ASN][1000 genomes]
rs4889599	1.00[CHD][hapmap]
rs4889603	1.00[CHD][hapmap]
rs4889604	1.00[CHD][hapmap]
rs4889609	0.88[JPT][hapmap]
rs4889614	0.82[CHB][hapmap];0.86[JPT][hapmap];0.81[ASN][1000 genomes]
rs4889622	0.84[ASN][1000 genomes]
rs4889627	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4889630	1.00[CHB][hapmap];0.86[JPT][hapmap];0.84[ASN][1000 genomes]
rs4889634	0.81[ASN][1000 genomes]
rs4889651	1.00[CHB][hapmap];0.83[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs4889653	1.00[CHB][hapmap];0.83[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs55719146	0.97[ASN][1000 genomes]
rs56083427	0.92[ASN][1000 genomes]
rs6565217	0.88[JPT][hapmap]
rs67264578	0.89[ASN][1000 genomes]
rs67456613	0.92[ASN][1000 genomes]
rs7196726	0.88[JPT][hapmap]
rs7197717	0.88[JPT][hapmap]
rs7199949	0.88[JPT][hapmap]
rs7200879	0.91[CHD][hapmap];0.88[JPT][hapmap]
rs7204459	1.00[CHD][hapmap]
rs7206511	0.91[CEU][hapmap];1.00[CHD][hapmap]
rs72799330	0.97[ASN][1000 genomes]
rs7294	0.88[JPT][hapmap]
rs729482	0.88[JPT][hapmap]
rs732172	0.88[JPT][hapmap]
rs749670	0.86[JPT][hapmap]
rs749671	0.88[JPT][hapmap]
rs7500719	1.00[CHB][hapmap];0.86[JPT][hapmap]
rs750952	0.88[JPT][hapmap]
rs8046001	0.82[CEU][hapmap];1.00[CHB][hapmap];0.82[GIH][hapmap];0.86[JPT][hapmap]
rs8046391	1.00[CHB][hapmap];0.86[JPT][hapmap]
rs8046707	1.00[CHD][hapmap]
rs8050107	0.97[ASN][1000 genomes]
rs8050588	0.91[CEU][hapmap];0.82[CHD][hapmap]
rs8056842	0.88[JPT][hapmap]
rs8058961	0.82[CHB][hapmap]
rs8060857	1.00[CHD][hapmap]
rs8062719	1.00[CHD][hapmap]
rs8063565	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs881929	0.88[JPT][hapmap]
rs897984	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs897986	1.00[CHD][hapmap]
rs9319588	0.91[CEU][hapmap]
rs9932572	0.82[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap]
rs9938550	0.92[CHD][hapmap]
rs9939417	0.88[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062456	chr16:30442166-31253997	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	437 gene(s)	inside rSNPs	diseases
2	nsv542898	chr16:30442166-31253997	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	437 gene(s)	inside rSNPs	diseases
3	nsv1064134	chr16:30640293-31087327	Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	238 gene(s)	inside rSNPs	diseases
4	nsv905728	chr16:30642867-30928970	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	171 gene(s)	inside rSNPs	diseases
5	nsv905729	chr16:30642867-31247924	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	387 gene(s)	inside rSNPs	diseases
6	esv1825223	chr16:30669091-30971810	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
7	nsv431451	chr16:30682399-31340999	Transcr. at gene 5' and 3' Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	350 gene(s)	inside rSNPs	diseases
8	nsv905733	chr16:30796919-31004812	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	112 gene(s)	inside rSNPs	diseases
9	nsv869652	chr16:30799471-30951038	Bivalent Enhancer Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	70 gene(s)	inside rSNPs	diseases
10	nsv833189	chr16:30819708-30960795	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	79 gene(s)	inside rSNPs	diseases
11	nsv833190	chr16:30845051-31007863	Enhancers Genic enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	105 gene(s)	inside rSNPs	diseases
12	nsv833191	chr16:30864242-31048051	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	115 gene(s)	inside rSNPs	diseases
13	nsv905734	chr16:30877544-31191482	Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	271 gene(s)	inside rSNPs	diseases
14	nsv905735	chr16:30890538-31247924	Strong transcription Genic enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	264 gene(s)	inside rSNPs	diseases
15	nsv905736	chr16:30900235-30995528	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
16	nsv905737	chr16:30900235-31014179	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
17	nsv457483	chr16:30903679-31191482	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Strong transcription Enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	253 gene(s)	inside rSNPs	diseases
18	nsv571820	chr16:30903679-31191482	Enhancers Genic enhancers Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	253 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs9933843	ZNF785	cis	lymphoblastoid	seeQTL
rs9933843	RABEP2	cis	cerebellum	SCAN
rs9933843	MYST1	cis	cerebellum	SCAN
rs9933843	MYST1	cis	parietal	SCAN
rs9933843	HSD3B7	cis	Esophagus Mucosa	GTEx
rs9933843	PHKG2	cis	parietal	SCAN
rs9933843	ITGAX	cis	parietal	SCAN

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:30888400-30903800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr16:30888400-30903800	Strong transcription	Fetal Stomach	stomach
3	chr16:30888400-30904000	Weak transcription	Stomach Mucosa	stomach
4	chr16:30888400-30904000	Weak transcription	HUVEC	blood vessel
5	chr16:30888400-30904200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr16:30888400-30904400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr16:30888400-30904400	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr16:30888600-30904000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr16:30888600-30904000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr16:30888600-30904000	Weak transcription	Colon Smooth Muscle	Colon
11	chr16:30888800-30904200	Weak transcription	Small Intestine	intestine
12	chr16:30889000-30903800	Strong transcription	Fetal Muscle Leg	muscle
13	chr16:30889200-30903800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr16:30890200-30903800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr16:30890200-30903800	Strong transcription	Fetal Brain Female	brain
16	chr16:30890400-30903800	Strong transcription	Cortex derived primary cultured neurospheres	brain
17	chr16:30890800-30903800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr16:30890800-30904400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr16:30892600-30903800	Strong transcription	Brain Germinal Matrix	brain
20	chr16:30894400-30904400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr16:30894600-30903800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr16:30894600-30903800	Weak transcription	Fetal Heart	heart
23	chr16:30894600-30904200	Weak transcription	Right Atrium	heart
24	chr16:30895200-30903800	Strong transcription	Fetal Thymus	thymus
25	chr16:30895200-30904000	Strong transcription	Fetal Intestine Small	intestine
26	chr16:30895400-30903800	Strong transcription	Primary T cells from cord blood	blood
27	chr16:30895400-30904000	Strong transcription	Fetal Intestine Large	intestine
28	chr16:30895600-30904000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr16:30895600-30904000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr16:30897400-30904400	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr16:30897600-30903800	Weak transcription	Fetal Brain Male	brain
32	chr16:30898000-30904400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr16:30898200-30904000	Weak transcription	NH-A	brain
34	chr16:30898200-30904400	Weak transcription	HSMMtube	muscle
35	chr16:30899400-30903800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr16:30899400-30904000	Weak transcription	Brain Cingulate Gyrus	brain
37	chr16:30899400-30904200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr16:30899600-30903800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr16:30900600-30903800	Strong transcription	Primary T cells fromperipheralblood	blood
40	chr16:30900600-30903800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr16:30900600-30903800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
42	chr16:30900600-30903800	Strong transcription	Fetal Muscle Trunk	muscle
43	chr16:30900600-30903800	Weak transcription	Pancreas	Pancrea
44	chr16:30900600-30904000	Weak transcription	Esophagus	oesophagus
45	chr16:30900600-30904200	Weak transcription	NHEK	skin
46	chr16:30900600-30904400	Weak transcription	H9 Cell Line	embryonic stem cell
47	chr16:30900800-30903800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
48	chr16:30900800-30903800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr16:30900800-30903800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr16:30900800-30903800	Weak transcription	Brain Hippocampus Middle	brain

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